Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Komplement-Komponente C6

Das C6-Gen kodiert einen Komplementfaktor des MAC (membrane attack complex). Mutationen führen zu C6-Mangel, welche sich in immunologischen Störungen äußern kann.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Komplement C6-Mangel
C6

Referenzen:

1.

Rogne S et al. (1991) The human genes for complement components 6 (C6) and 9 (C9) are closely linked on chromosome 5.

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2.

Spicer ST et al. (2007) Induction of passive Heymann nephritis in complement component 6-deficient PVG rats.

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3.

Soejima M et al. (2005) Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.

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4.

Fernie BA et al. (1993) Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes.

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5.

Hobart MJ et al. (1993) Structure of the human C6 gene.

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6.

Olving JH et al. (1980) Polymorphism of the sixth component of complement (C6) in Norwegian Lapps.

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7.

Bender K et al. (1983) C6 linkage studies.

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8.

Eldridge PR et al. (1983) The genetics of the sixth and seventh components of complement in the dog: polymorphism, linkage, locus duplication, and silent alleles.

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9.

Tokunaga K et al. (1983) Polymorphism of the complement component C6 in Japanese.

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10.

Nakamura S et al. (1984) Genetic polymorphism of complement C6 and haplotype analysis between C6 and C7 in a Japanese population.

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11.

None (1984) Genetic polymorphism and linkage of the sixth and seventh complement components (C6 and C7) in the common marmoset.

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12.

Tokunaga K et al. (1986) Family study on the polymorphisms of the sixth and seventh components (C6 and C7) of human complement: linkage and haplotype analyses.

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13.

Haefliger JA et al. (1989) Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6.

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14.

DiScipio RG et al. (1989) The molecular architecture of human complement component C6.

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15.

Jeremiah SJ et al. (1990) The assignment of the genes coding for human complement components C6 and C7 to chromosome 5.

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16.

Podack ER et al. (1976) Purification of the sixth and seventh component of human complement without loss of hemolytic activity.

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17.

Hobart MJ et al. (1978) Inherited structural variation and linkage relationships of C7.

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18.

Coto E et al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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19.

Setién F et al. (1993) A physical map of the human complement component C6, C7, and C9 genes.

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20.

Lachmann PJ et al. (1978) Combined genetic deficiency of C6 and C7 in man.

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21.

Fernie BA et al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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22.

Vogler LB et al. (1979) Recurrent meningococcal meningitis with absence of the sixth component of complement: an evaluation of underlying immunologic mechanisms.

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23.

Tedesco F et al. (1981) A lupus-like syndrome in a patient with deficiency of the sixth component of complement.

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24.

Würzner R et al. (1995) Molecular basis of subtotal complement C6 deficiency. A carboxy-terminally truncated but functionally active C6.

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25.

Hobart MJ et al. (1993) A physical map of the C6 and C7 complement component gene region on chromosome 5p13.

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26.

Nishizaka H et al. (1996) Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.

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27.

Zhu ZB et al. (1998) Molecular defects leading to human complement component C6 deficiency in an African-American family.

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28.

Hobart MJ et al. (1998) The molecular basis of C6 deficiency in the western Cape, South Africa.

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29.

Alvarez V et al. (1995) Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components.

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30.

Olving JH et al. (1979) Genetic linkage relations of the sixth component of complement (C6).

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31.

Hobart MJ et al. (1977) Linkage studies with C6.

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32.

Olving JH et al. (1977) Nonlinkage between C6 and chromosome 6 markers.

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33.

Orphanet article

Orphanet ID 160107 external link
34.

NCBI article

NCBI 729 external link
35.

OMIM.ORG article

Omim 217050 external link
Update: 14. August 2020
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